CBFA2T3 - CBFA2/RUNX1 partner transcriptional co-repressor 3 Gene
Also Known as ETO2; MTG16; MTGR2; ZMYND4; RUNX1T3
生物種: Homo sapiens
About CBFA2T3
This gene has 11 transcripts (splice variants), 213 orthologues, 2 paralogues and is associated with 86 phenotypes. Broad expression in spleen (RPKM 6.2), lymph node (RPKM 3.7) and 24 other tissues.
Summary
This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(16;21)(q24;q22) translocation is one of the less common karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. This gene is also a putative breast tumor suppressor. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010]
CBFA2T3 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_005187.6 | NP_005178.4 | protein CBFA2T3 isoform 1 |
| NM_175931.3 | NP_787127.1 | protein CBFA2T3 isoform 2 |
| Molecular Function GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
16966434 | GOA |
| Biological Process GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| acts upstream of or within granulocyte differentiation |
IDA
IDA: Inferred from direct assay
|
15231665 | GOA |
| involved in negative regulation of DNA-templated transcription |
IDA
IDA: Inferred from direct assay
|
23840896 | GOA |
| involved in negative regulation of DNA-templated transcription |
IMP
IMP: Inferred from mutant phenotype
|
23251453 | GOA |
| involved in negative regulation of cell population proliferation |
IDA
IDA: Inferred from direct assay
|
23840896 | GOA |
| involved in negative regulation of glycolytic process |
IDA
IDA: Inferred from direct assay
|
23840896 | GOA |
| involved in positive regulation of proteasomal ubiquitin-dependent protein catabolic process |
IMP
IMP: Inferred from mutant phenotype
|
25974097 | GOA |
| involved in regulation of aerobic respiration |
IDA
IDA: Inferred from direct assay
|
23840896 | GOA |
| involved in response to hypoxia |
IDA
IDA: Inferred from direct assay
|
23840896 | GOA |
CBFA2T3 Protein Structure
TAFH: NHR1 homology to TAF (172 - 265)
NHR2: NHR2 domain like (379 - 445)
zf-MYND: MYND finger (556 - 592)
- 0
- 100
- 200
- 300
- 400
- 500
- 600
- 653 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
protein CBFA2T3 |
|
CBFA2T3 Protein-protein interaction Information
|
Type
|
タンパク質名 | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | 参考文献 |
|---|---|---|---|---|---|---|---|
|
Intra
|
CBFA2T3 | O75081 | ZNF652 | Homo sapiens | Q9Y2D9 | 16966434 | |
|
Intra
|
CBFA2T3 | O75081 | ZNF652 | Homo sapiens | Q9Y2D9 | 16966434 |
関連疾患
| Diseases | Alias | |
|---|---|---|
| Acute Megakaryoblastic Leukemia Without Down Syndrome |
|
|
| Childhood Acute Megakaryoblastic Leukemia |
|
|
| Myeloid Leukemia Associated With Down Syndrome |
|
|
| Myeloid Leukemia |
|
|
| Childhood Acute Myeloid Leukemia |
|
|
| Myeloproliferative Syndrome, Transient |
|
|
| Childhood Leukemia |
|
|
| Acute Megakaryocytic Leukemia |
|
|
| Acute Erythroid Leukemia |
|
|
| Chromosomal Duplication Syndrome |
|
|
| Leukemia, Acute Myeloid |
|
|
Orthologs Information
| 生物種 | Symbol | 由来 | ID |
|---|---|---|---|
| Felis catus | CBFA2T3 | VGNC | VGNC:82569 |
| Mus musculus | CBFA2T3 | MGD | MGI:1338013 |
| Rattus norvegicus | CBFA2T3 | RGD | RGD:1310547 |
| Macaca mulatta | CBFA2T3 | VGNC | VGNC:104685 |
| Canis familiaris | CBFA2T3 | VGNC | VGNC:56007 |
| Bos taurus | CBFA2T3 | VGNC | VGNC:80260 |
| Others | CBFA2T3 | NCBI |